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Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...

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Related Experiment Video

Updated: Jan 5, 2026

SA-β-Galactosidase-Based Screening Assay for the Identification of Senotherapeutic Drugs

SA-β-Galactosidase-Based Screening Assay for the Identification of Senotherapeutic Drugs

Published on: June 28, 2019

Biochemical screening

M I Evans¹, J E O'Brien, E Dvorin

¹Division of Reproductive Genetics, Hutzel Hospital/Wayne State University, Detroit, Michigan.

Current Opinion in Obstetrics & Gynecology

|October 1, 1994

Summary

This summary is machine-generated.

Screening for chromosomally abnormal fetuses in obstetrics is advancing globally. Recent progress includes neural tube detection, new aneuploidy markers, and early first-trimester screening methods.

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Last Updated: Jan 5, 2026

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Published on: August 8, 2016

Area of Science:

Prenatal diagnostics
Fetal medicine
Genetics

Background:

Screening for fetal chromosomal abnormalities is a key area in obstetrics.
Global efforts are underway to refine and implement effective screening protocols.
Existing methods face limitations in accuracy and timing.

Purpose of the Study:

To advance the development of screening methods for chromosomally abnormal fetuses.
To explore new markers for detecting aneuploidy.
To facilitate earlier prenatal screening, specifically in the first trimester.

Main Methods:

Investigating novel biochemical and ultrasound markers for aneuploidy detection.
Evaluating neural tube defect screening techniques.
Assessing the feasibility of integrating screening into the first trimester of pregnancy.

Main Results:

Development of new markers shows promise for improved aneuploidy detection.
Advances in neural tube detection enhance prenatal screening capabilities.
First-trimester screening approaches are being refined for earlier diagnosis.

Conclusions:

Continued advancements are enhancing the ability to screen for fetal chromosomal abnormalities.
The focus on early detection, particularly in the first trimester, is a significant trend.
Multifocal approaches combining new markers and improved detection methods are crucial.